Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476108
rs199476108
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation BEFREE A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously reported C14482G (M64I), was found to cause Leber's hereditary optic neuropathy with visual recovery in an Italian family. 12112086

2002
dbSNP: rs199476104
rs199476104
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation BEFREE Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy. 10072046

1999
dbSNP: rs199951903
rs199951903
CYTB ; ND6
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 GeneticVariation BEFREE Although the frequencies of some variations, such as N260D and G251S, differed significantly between centenarians and patients with Parkinson's disease, the most striking feature of centenarian cytochrome b was the much greater scarceness of amino acid variations in contrast with the variety of amino acid replacements in patients with Parkinson's disease. 12375058

2002
dbSNP: rs199951903
rs199951903
CYTB ; ND6
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 GeneticVariation BEFREE Although the frequencies of some variations, such as N260D and G251S, differed significantly between centenarians and patients with Parkinson's disease, the most striking feature of centenarian cytochrome b was the rareness of amino acid variations in contrast to the variety of amino acid replacements in patients with Parkinson's disease. 12391595

2002
dbSNP: rs41518645
rs41518645
CYTB ; ND6
CUI: C0002871
Disease: Anemia
Anemia 		0.010 GeneticVariation BEFREE Non-synonymous substitutions (F33 L and D171N) and Indel mutations were observed for Cytochrome B gene, leading to a truncated protein, where anemia, malfunctioning of most of the vital organs as liver, kidney and mineral status was observed and debility with exercise intolerance and cardiomyopathy in extreme cases were depicted. 30660753

2019
dbSNP: rs41518645
rs41518645
CYTB ; ND6
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 GeneticVariation BEFREE Non-synonymous substitutions (F33 L and D171N) and Indel mutations were observed for Cytochrome B gene, leading to a truncated protein, where anemia, malfunctioning of most of the vital organs as liver, kidney and mineral status was observed and debility with exercise intolerance and cardiomyopathy in extreme cases were depicted. 30660753

2019
dbSNP: rs28359178
rs28359178
CYTB ; ND5 ; ND6
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 GeneticVariation BEFREE We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. 25925750

2015
dbSNP: rs28359178
rs28359178
CYTB ; ND5 ; ND6
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 GeneticVariation BEFREE We reported earlier that two mitochondrial gene polymorphisms, UCP2 -866 G/A (rs659366) and mtDNA nt13708 G/A (rs28359178), are associated with multiple sclerosis (MS). 19387457

2009
dbSNP: rs28357681
rs28357681
CYTB ; ND6
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 GeneticVariation BEFREE Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma. 31323957

2019
dbSNP: rs28357681
rs28357681
CYTB ; ND6
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 GeneticVariation BEFREE Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma. 31323957

2019
dbSNP: rs28357681
rs28357681
CYTB ; ND6
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 GeneticVariation BEFREE Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma. 31323957

2019
dbSNP: rs28357681
rs28357681
CYTB ; ND6
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 GeneticVariation BEFREE Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma. 31323957

2019
dbSNP: rs207460001
rs207460001
CYTB ; ND6
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.010 GeneticVariation BEFREE G167P suggests possible molecular effects of S151P (corresponding in sequence to G167P) identified as a mitochondrial disease-related mutation in human cytochrome b. 26245902

2015
dbSNP: rs207459997
rs207459997
CYTB ; ND6
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency 		0.010 GeneticVariation BEFREE A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. 8910895

1996
dbSNP: rs199951903
rs199951903
CYTB ; ND6
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		0.010 GeneticVariation BEFREE The aim of this study was to evaluate whether the 15497 G/A mtDNA polymorphism (G251S) in the cytochrome b subunit of respiratory complex III, which has been associated with obesity-related variables and lipid metabolism in a Japanese population, is associated with severe obesity also in adult Caucasians from southern Italy. 17015183

2006
dbSNP: rs199476108
rs199476108
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		G 0.810 CausalMutation CLINVAR

dbSNP: rs199476108
rs199476108
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		A 0.810 CausalMutation CLINVAR

dbSNP: rs199476104
rs199476104
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		C 0.810 CausalMutation CLINVAR Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation. 8470982

1993
dbSNP: rs397515506
rs397515506
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		T 0.800 CausalMutation CLINVAR

dbSNP: rs387906425
rs387906425
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		A 0.800 CausalMutation CLINVAR

dbSNP: rs387906424
rs387906424
CYTB ; ND5 ; ND6
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		T 0.800 CausalMutation CLINVAR

dbSNP: rs207459996
rs207459996
CYTB ; ND6
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		C 0.800 CausalMutation CLINVAR

dbSNP: rs199476109
rs199476109
CYTB ; ND5 ; ND6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		C 0.800 CausalMutation CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045

2004
dbSNP: rs199476109
rs199476109
CYTB ; ND5 ; ND6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		C 0.800 CausalMutation CLINVAR Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA. 16337195

2005
dbSNP: rs199476109
rs199476109
CYTB ; ND5 ; ND6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		C 0.800 CausalMutation CLINVAR Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. 14684687

2003